TET2 c.5482C>T ;(p.Q1828*)

Variant ID: 4-106197149-C-T

NM_001127208.2(TET2):c.5482C>T;(p.Q1828*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Publication Date: 2022-10-06

Variant appearance in text: TET2: Q1828*
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TET2: Q1828X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: TET2: Q1828*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: Q1828X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: TET2: 5482C>T; Q1828*
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Frontiers In Genetics
Li, Jiaming J; Peng, Zhenping Z; Luo, Fangxiu F; Chen, Yu Y
Publication Date: 2020

Variant appearance in text: TET2: Q1828X
PubMed Link: 32849799
Variant Present in the following documents:
  • Presentation_1.pdf
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: TET2: Q1828*
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 5482C>T; Gln1828*
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s5.xlsx, sheet 6
View BVdb publication page



MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

Leukemia
L Abbate, Alberto A; Tolomeo, Doron D; Cifola, Ingrid I; Severgnini, Marco M; Turchiano, Antonella A; Augello, Bartolomeo B; Squeo, Gabriella G; D Addabbo, Pietro P; Traversa, Debora D; Daniele, Giulia G; Lonoce, Angelo A; Pafundi, Mariella M; Carella, Massimo M; Palumbo, Orazio O; Dolnik, Anna A; Muehlematter, Dominique D; Schoumans, Jacqueline J; Van Roy, Nadine N; De Bellis, Gianluca G; Martinelli, Giovanni G; Merla, Giuseppe G; Bullinger, Lars L; Haferlach, Claudia C; Storlazzi, Clelia Tiziana CT
Publication Date: 2018-10

Variant appearance in text: TET2: Q1828X
PubMed Link: 29467491
Variant Present in the following documents:
  • 41375_2018_33_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.

Oncotarget
Bartels, Stephan S; Schipper, Elisa E; Hasemeier, Britta B; Kreipe, Hans H; Lehmann, Ulrich U
Publication Date: 2016-05-24

Variant appearance in text: TET2: Q1828*
PubMed Link: 27029036
Variant Present in the following documents:
  • oncotarget-07-30084-s002.xlsx, sheet 3
View BVdb publication page



Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Nature Communications
Merlevede, Jane J; Droin, Nathalie N; Qin, Tingting T; Meldi, Kristen K; Yoshida, Kenichi K; Morabito, Margot M; Chautard, Emilie E; Auboeuf, Didier D; Fenaux, Pierre P; Braun, Thorsten T; Itzykson, Raphael R; de Botton, Stéphane S; Quesnel, Bruno B; Commes, Thérèse T; Jourdan, Eric E; Vainchenker, William W; Bernard, Olivier O; Pata-Merci, Noemie N; Solier, Stéphanie S; Gayevskiy, Velimir V; Dinger, Marcel E ME; Cowley, Mark J MJ; Selimoglu-Buet, Dorothée D; Meyer, Vincent V; Artiguenave, François F; Deleuze, Jean-François JF; Preudhomme, Claude C; Stratton, Michael R MR; Alexandrov, Ludmil B LB; Padron, Eric E; Ogawa, Seishi S; Koscielny, Serge S; Figueroa, Maria M; Solary, Eric E
Publication Date: 2016-02-24

Variant appearance in text: TET2: Q1828X
PubMed Link: 26908133
Variant Present in the following documents:
  • ncomms10767-s2.xls, sheet 1
View BVdb publication page



Rapid expansion of preexisting nonleukemic hematopoietic clones frequently follows induction therapy for de novo AML.

Blood
Wong, Terrence N TN; Miller, Christopher A CA; Klco, Jeffery M JM; Petti, Allegra A; Demeter, Ryan R; Helton, Nichole M NM; Li, Tiandao T; Fulton, Robert S RS; Heath, Sharon E SE; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Welch, John S JS; Graubert, Timothy A TA; Wilson, Richard K RK; Ley, Timothy J TJ; Link, Daniel C DC
Publication Date: 2016-02-18

Variant appearance in text: TET2: Q1828*
PubMed Link: 26631115
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.

Nature Communications
Kiel, Mark J MJ; Sahasrabuddhe, Anagh A AA; Rolland, Delphine C M DCM; Velusamy, Thirunavukkarasu T; Chung, Fuzon F; Schaller, Matthew M; Bailey, Nathanael G NG; Betz, Bryan L BL; Miranda, Roberto N RN; Porcu, Pierluigi P; Byrd, John C JC; Medeiros, L Jeffrey LJ; Kunkel, Steven L SL; Bahler, David W DW; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ
Publication Date: 2015-09-29

Variant appearance in text: TET2: Q1828X
PubMed Link: 26415585
Variant Present in the following documents:
  • Main text
  • ncomms9470.pdf
View BVdb publication page